ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.494-6C>T

gnomAD frequency: 0.00096  dbSNP: rs111790169
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000474592 SCV000562020 benign Hereditary pancreatitis 2024-01-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000474592 SCV001471910 likely benign Hereditary pancreatitis 2020-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000474592 SCV002646910 uncertain significance Hereditary pancreatitis 2014-09-15 criteria provided, single submitter clinical testing The c.494-6C>T intronic variant results from a C to T substitution 6 nucleotides upstream from coding exon 6 in the CTRC gene. This variant was previously reported in the SNPDatabase as rs111790169. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.12% (15/13006) total alleles studied, having been observed in 0.34% (15/4406) African American alleles. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this acceptor; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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